Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.P271fs

USH1G

217 papers

RefSeq Summary

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher synd...

Pfam Domains

Ank_2aa 36–126UCSCAnkyrin repeats (3 copies)
SAM_1aa 387–447UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

USH1 protein network component sans

HGNC Alias Symbols

Sans; FLJ33924; ANKS4A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173477.5
p.P271fs
c.811_812fs
Surrounding Variants
2 papers
NM_173477.5
p.P271delFs
c.812delG
3 papers
NM_173477.5
p.R269*
c.805C>T
2 papers
NM_173477.5
p.W267*
c.801G>A
2 papers
NM_173477.5
p.W267*
c.800G>A
1 paper
NM_173477.5
p.P264L
c.791C>T
4 papers
NM_173477.5
p.S278fs
c.832_833fs
1 paper
NM_173477.5
p.S278L
c.833C>T
2 papers
NM_173477.5
p.N263D
c.787A>G
1 paper
NM_173477.5
p.D279E
c.837C>G
1 paper
NM_173477.5
p.D279E
c.837C>A
1 paper
NM_173477.5
p.E280V
c.839A>T
2 papers
NM_173477.5
p.Y261fs
c.781_782fs
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